Linked Data
ClinVar Variation Id:
189174
dbSNP Id:
rs200444084
ExAC:
18:21114444 C / T
gnomAD v2:
18-21114444-C-T
gnomAD v3:
18-23534480-C-T
gnomAD v4:
18-23534480-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23534480C>T , CM000680.2:g.23534480C>T | GRCh38 |
| NC_000018.9:g.21114444C>T , CM000680.1:g.21114444C>T | GRCh37 |
| NC_000018.8:g.19368442C>T | NCBI36 |
| NG_012795.1:g.57138G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269228.10:c.3557G>A MANE Select | ENSP00000269228.4:p.Arg1186His | |
| ENST00000269228.9:c.3557G>A | ENSP00000269228.4:p.Arg1186His | |
| ENST00000586150.5:c.312G>A | ||
| ENST00000587163.1:n.81G>A | ||
| ENST00000588867.1:n.312G>A | ||
| ENST00000591051.1:c.2635G>A | ||
| ENST00000591107.6:c.234G>A | ||
| NM_000271.4:c.3557G>A | NP_000262.2:p.Arg1186His | |
| XM_005258277.1:c.3608G>A | XP_005258334.1:p.Arg1203His | |
| XM_005258278.3:c.3608G>A | XP_005258335.1:p.Arg1203His | |
| XM_005258279.1:c.3557G>A | XP_005258336.1:p.Arg1186His | |
| XM_006722479.2:c.3608G>A | XP_006722542.1:p.Arg1203His | |
| XM_011526015.1:c.3143G>A | XP_011524317.1:p.Arg1048His | |
| XM_005258278.5:c.3608G>A | XP_005258335.1:p.Arg1203His | |
| XM_005258279.2:c.3557G>A | XP_005258336.1:p.Arg1186His | |
| XM_006722479.3:c.3608G>A | XP_006722542.1:p.Arg1203His | |
| XM_017025784.1:c.3608G>A | XP_016881273.1:p.Arg1203His | |
| XM_017025785.1:c.3608G>A | XP_016881274.1:p.Arg1203His | |
| XM_017025786.1:c.3557G>A | XP_016881275.1:p.Arg1186His | |
| XM_017025787.1:c.3557G>A | XP_016881276.1:p.Arg1186His | |
| NM_000271.5:c.3557G>A MANE Select | NP_000262.2:p.Arg1186His |